Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy

Alexandra Prufer de Queiroz Campos Araujo; Jonas Alex Morales Saute; Clarisse Pereira Dias Drumond Fortes; Marcondes Cavalcante França Jr; Jaqueline Almeida Pereira; Marco Antonio Veloso de Albuquerque; Alzira Alves de Siqueira Carvalho; Eduardo Boiteux Uchôa Cavalcanti; Anna Paula Paranhos Miranda Covaleski; Simone Chaves Fagondes; Juliana Gurgel-Giannetti; Marcus Vinicius Magno Gonçalves; Alberto Rolim Muro Martinez; Antônio Rodrigues Coimbra Neto; Flavio Reis Neves; Anamarli Nucci; Ana Paula Cassetta dos Santos Nucera; Andre Luis Santos Pessoa; Marcos Ferreira Rebel; Flavia Nardes dos Santos; Rosana Herminia Scola; Cláudia Ferreira da Rosa Sobreira

doi:10.1055/s-0043-1761466

Arquivos de Neuro-Psiquiatria, Table of Contents

CC BY 4.0 · Arq Neuropsiquiatr 2023; 81(01): 081-094
DOI: 10.1055/s-0043-1761466

Brazilian Academy of Neurology

Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy

Atualização das recomendações do consenso brasileiro para distrofia muscular de Duchenne

Authors

Alexandra Prufer de Queiroz Campos Araujo

¹Universidade Federal do Rio de Janeiro, Faculdade de Medicina, Rio de Janeiro RJ, Brazil.
Jonas Alex Morales Saute

²Universidade Federal do Rio Grande do Sul, Faculdade de Medicina, Porto Alegre RS, Brazil.
Clarisse Pereira Dias Drumond Fortes

³Instituto de Puericultura e Pediatria Martagão Gesteira, Equipe de Pesquisa em Doenças Neuromusculares, Rio de Janeiro RJ, Brazil.
Marcondes Cavalcante França Jr

⁴Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Campinas SP, Brazil.
Jaqueline Almeida Pereira

⁵Universidade Federal do Rio de Janeiro, Faculdade de Fisioterapia, Rio de Janeiro RJ, Brazil.
Marco Antonio Veloso de Albuquerque

⁶Universidade de São Paulo, Hospital das Clínicas, São Paulo SP, Brazil.
Alzira Alves de Siqueira Carvalho

⁷Centro Universitário da Faculdade de Medicina do ABC, Santo André SP, Brazil.
Eduardo Boiteux Uchôa Cavalcanti

⁸Hospital Sarah Kubitschek, Unidade Lago Norte, Brasília DF, Brazil.
Anna Paula Paranhos Miranda Covaleski

⁹Associação de Assistência à Criança Deficiente, Ambulatório de Doenças Neuromusculares, Recife PE, Brazil.
Simone Chaves Fagondes

¹⁰Hospital das Clínicas de Porto Alegre, Laboratório do Sono, Porto Alegre RS, Brazil.
Juliana Gurgel-Giannetti

¹¹Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte MG, Brazil.
Marcus Vinicius Magno Gonçalves

¹²Faculdade de Medicina, Universidade da Região de Joinville, Joinville SC, Brazil.
Alberto Rolim Muro Martinez

¹³Serviços de Doenças Neuromusculares, Universidade Estadual de Campinas, Campinas SP, Brazil.
Antônio Rodrigues Coimbra Neto

⁴Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Campinas SP, Brazil.
Flavio Reis Neves

³Instituto de Puericultura e Pediatria Martagão Gesteira, Equipe de Pesquisa em Doenças Neuromusculares, Rio de Janeiro RJ, Brazil.
Anamarli Nucci

⁴Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Campinas SP, Brazil.
Ana Paula Cassetta dos Santos Nucera

¹Universidade Federal do Rio de Janeiro, Faculdade de Medicina, Rio de Janeiro RJ, Brazil.
Andre Luis Santos Pessoa

¹⁴Universidade Estadual do Ceará, Faculdade de Medicina, Fortaleza CE, Brazil.
Marcos Ferreira Rebel

⁵Universidade Federal do Rio de Janeiro, Faculdade de Fisioterapia, Rio de Janeiro RJ, Brazil.
Flavia Nardes dos Santos

¹Universidade Federal do Rio de Janeiro, Faculdade de Medicina, Rio de Janeiro RJ, Brazil.
Rosana Herminia Scola

¹⁵Universidade Federal do Paraná, Faculdade de Medicina, Curitiba PR, Brazil.
Cláudia Ferreira da Rosa Sobreira

¹⁶Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Ribeirão Preto SP, Brazil.

Abstract

In the last few decades, there have been considerable improvements in the diagnosis and care of Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy. International guidelines have been published and recently reviewed. A group of Brazilian experts has developed a standard of care based on a literature review with evidence-based graded recommendations in a two-part publication. Implementing best practice management has helped change the natural history of this chronic progressive disorder, in which the life expectancy for children of the male sex in the past used to be very limited. Since the previous publication, diagnosis, steroid treatment, rehabilitation, and systemic care have gained more significant insights with new original work in certain fields. Furthermore, the development of new drugs is ongoing, and some interventions have been approved for use in certain countries. Therefore, we have identified the need to review the previous care recommendations for Brazilian patients with DMD. Our objective was to create an evidence-based document that is an update on our previous consensus on those topics.

Resumo

Nas últimas décadas, houve progressos significativos no diagnóstico e no tratamento da distrofia muscular de Duchenne (DMD), considerada a distrofia muscular mais comum na infância. Diretrizes internacionais foram publicadas e revisadas recentemente. Um grupo de especialistas brasileiros desenvolveu um padrão de atendimento baseado em revisão de literatura, com recomendações graduadas pautadas em evidências compiladas em uma publicação dividida em duas partes. A implementação de melhores práticas de manejo ajudou a modificar a história natural desta doença crônica, progressiva, que, no passado, oferecia uma expectativa de vida muito limitada para crianças do sexo masculino. Desde a publicação desse consenso anterior, o diagnóstico, o tratamento com esteroides, a reabilitação e os cuidados sistêmicos ganharam novas possibilidades a partir da divulgação dos resultados de trabalhos originais em algumas dessas áreas. Além disso, as pesquisas e o desenvolvimento de novos fármacos estão em andamento, e algumas intervenções já foram aprovadas para uso em determinados países. Nesse contexto, identificamos a necessidade de rever as recomendações anteriores sobre o manejo dos pacientes brasileiros com DMD. Nosso objetivo principal foi elaborar uma atualização baseada em evidências sobre esses tópicos do consenso.

Keywords

Muscular Dystrophy - Duchenne - Consensus - Practice Guideline - Diagnosis - Genetic Testing - Steroids - Rehabilitation - Drug Therapy - Standard of Care - Drug Development

Palavras-chave

Distrofia Muscular de Duchenne - Consenso - Guia de Prática Clínica - Diagnóstico - Testes Genéticos - Esteroides - Reabilitação - Tratamento Farmacológico - Padrão de Cuidado - Desenvolvimento de Medicamentos

Full Text

References

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